| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000420743 |
| Start |
21211836:21211836(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.650T>A |
| AA Mutation |
p.Ile217Asn(p.I217N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000420743 |
| Start |
21212984:21212984(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.538C>T |
| AA Mutation |
p.Arg180Trp(p.R180W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
splice_acceptor_variant;intron_variant |
| Transcription ID |
ENST00000420743 |
| Start |
21211925:21211926(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.563-3_563-2delAA |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |